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2025-05-12 01:32:27, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003941 4447 bp mRNA linear PRI 12-JUL-2013
DEFINITION Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.
ACCESSION NM_003941
VERSION NM_003941.3 GI:523498695
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4447)
AUTHORS Guenin-Mace L, Veyron-Churlet R, Thoulouze MI, Romet-Lemonne G,
Hong H, Leadlay PF, Danckaert A, Ruf MT, Mostowy S, Zurzolo C,
Bousso P, Chretien F, Carlier MF and Demangel C.
TITLE Mycolactone activation of Wiskott-Aldrich syndrome proteins
underpins Buruli ulcer formation
JOURNAL J. Clin. Invest. 123 (4), 1501-1512 (2013)
PUBMED 23549080
REMARK GeneRIF: NWASP activation by mycolactone underpins Buruli ulcer
formation via modulation of the actin cytoskeleton.
REFERENCE 2 (bases 1 to 4447)
AUTHORS Rajput C, Kini V, Smith M, Yazbeck P, Chavez A, Schmidt T, Zhang W,
Knezevic N, Komarova Y and Mehta D.
TITLE Neural Wiskott-Aldrich syndrome protein (N-WASP)-mediated
p120-catenin interaction with Arp2-Actin complex stabilizes
endothelial adherens junctions
JOURNAL J. Biol. Chem. 288 (6), 4241-4250 (2013)
PUBMED 23212915
REMARK GeneRIF: Neural Wiskott-Aldrich syndrome protein (N-WASP)-mediated
p120-catenin interaction with Arp2-Actin complex stabilizes
endothelial adherens junctions.
REFERENCE 3 (bases 1 to 4447)
AUTHORS Serrano-Pertierra E, Cernuda-Morollon E and Lopez-Larrea C.
TITLE Wiskott-Aldrich syndrome protein (WASp) and N-WASp are involved in
the regulation of NK-cell migration upon NKG2D activation
JOURNAL Eur. J. Immunol. 42 (8), 2142-2151 (2012)
PUBMED 22585739
REMARK GeneRIF: study describes that both N-WASp and WASp participate in
the inhibition of NK-cell chemotaxis in response to NKG2D WASp
engagement, and that this effect is not dependent on the regulation
of F-actin dynamics
REFERENCE 4 (bases 1 to 4447)
AUTHORS Escudero-Esparza A, Jiang WG and Martin TA.
TITLE Claudin-5 is involved in breast cancer cell motility through the
N-WASP and ROCK signalling pathways
JOURNAL J. Exp. Clin. Cancer Res. 31, 43 (2012)
PUBMED 22559840
REMARK GeneRIF: Study portrays a role for Claudin-5 in cell motility
involving the N-WASP signalling cascade indicating a possible role
for Claudin-5 in the metastasis of human breast cancer.
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 4447)
AUTHORS Kovacs EM, Verma S, Ali RG, Ratheesh A, Hamilton NA, Akhmanova A
and Yap AS.
TITLE N-WASP regulates the epithelial junctional actin cytoskeleton
through a non-canonical post-nucleation pathway
JOURNAL Nat. Cell Biol. 13 (8), 934-943 (2011)
PUBMED 21785420
REMARK GeneRIF: N-WASP-WIRE serves as an integrator that couples actin
nucleation with the subsequent steps of filament stabilization and
organization necessary for zonula adherens integrity.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 4447)
AUTHORS Qualmann B, Roos J, DiGregorio PJ and Kelly RB.
TITLE Syndapin I, a synaptic dynamin-binding protein that associates with
the neural Wiskott-Aldrich syndrome protein
JOURNAL Mol. Biol. Cell 10 (2), 501-513 (1999)
PUBMED 9950691
REFERENCE 7 (bases 1 to 4447)
AUTHORS Suetsugu S, Miki H and Takenawa T.
TITLE The essential role of profilin in the assembly of actin for
microspike formation
JOURNAL EMBO J. 17 (22), 6516-6526 (1998)
PUBMED 9822597
REFERENCE 8 (bases 1 to 4447)
AUTHORS Suzuki T, Miki H, Takenawa T and Sasakawa C.
TITLE Neural Wiskott-Aldrich syndrome protein is implicated in the
actin-based motility of Shigella flexneri
JOURNAL EMBO J. 17 (10), 2767-2776 (1998)
PUBMED 9582270
REFERENCE 9 (bases 1 to 4447)
AUTHORS Miki H, Sasaki T, Takai Y and Takenawa T.
TITLE Induction of filopodium formation by a WASP-related
actin-depolymerizing protein N-WASP
JOURNAL Nature 391 (6662), 93-96 (1998)
PUBMED 9422512
REFERENCE 10 (bases 1 to 4447)
AUTHORS Fukuoka M, Miki H and Takenawa T.
TITLE Identification of N-WASP homologs in human and rat brain
JOURNAL Gene 196 (1-2), 43-48 (1997)
PUBMED 9322739
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CF593336.1, BC052955.1,
BC028602.1 and DB380642.1.
On Jul 12, 2013 this sequence version replaced gi:33946268.
Summary: This gene encodes a member of the Wiskott-Aldrich syndrome
(WAS) protein family. Wiskott-Aldrich syndrome proteins share
similar domain structure, and associate with a variety of signaling
molecules to alter the actin cytoskeleton. The encoded protein is
highly expressed in neural tissues, and interacts with several
proteins involved in cytoskeletal organization, including cell
division control protein 42 (CDC42) and the actin-related
protein-2/3 (ARP2/3) complex. The encoded protein may be involved
in the formation of long actin microspikes, and in neurite
extension. [provided by RefSeq, Jul 2013].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC052955.1, AK289795.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-50 CF593336.1 30-79
51-2861 BC052955.1 1-2811
2862-4426 BC028602.1 2796-4360
4427-4447 DB380642.1 1-21 c
FEATURES Location/Qualifiers
source 1..4447
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q31.3"
gene 1..4447
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/note="Wiskott-Aldrich syndrome-like"
/db_xref="GeneID:8976"
/db_xref="HGNC:12735"
/db_xref="MIM:605056"
exon 1..454
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
misc_feature 107..109
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/note="upstream in-frame stop codon"
CDS 338..1855
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/codon_start=1
/product="neural Wiskott-Aldrich syndrome protein"
/protein_id="NP_003932.3"
/db_xref="GI:51702526"
/db_xref="CCDS:CCDS34743.1"
/db_xref="GeneID:8976"
/db_xref="HGNC:12735"
/db_xref="MIM:605056"
/translation="
MSSVQQQPPPPRRVTNVGSLLLTPQENESLFTFLGKKCVTMSSAVVQLYAADRNCMWSKKCSGVACLVKDNPQRSYFLRIFDIKDGKLLWEQELYNNFVYNSPRGYFHTFAGDTCQVALNFANEEEAKKFRKAVTDLLGRRQRKSEKRRDPPNGPNLPMATVDIKNPEITTNRFYGPQVNNISHTKEKKKGKAKKKRLTKADIGTPSNFQHIGHVGWDPNTGFDLNNLDPELKNLFDMCGISEAQLKDRETSKVIYDFIEKTGGVEAVKNELRRQAPPPPPPSRGGPPPPPPPPHNSGPPPPPARGRGAPPPPPSRAPTAAPPPPPPSRPSVAVPPPPPNRMYPPPPPALPSSAPSGPPPPPPSVLGVGPVAPPPPPPPPPPPGPPPPPGLPSDGDHQVPTTAGNKAALLDQIREGAQLKKVEQNSRPVSCSGRDALLDQIRQGIQLKSVADGQESTPPTPAPTSGIVGALMEVMQKRSKAIHSSDEDEDEDDEEDFEDDDEWED
"
misc_feature 440..745
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/note="WASP-type EVH1 domain; Region: WASP; cd01205"
/db_xref="CDD:176281"
misc_feature order(482..484,488..490,500..508,560..562,611..616,
620..625,647..649,656..658,662..664,668..673,680..685,
689..691,695..697)
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/note="peptide binding site [polypeptide binding]; other
site"
/db_xref="CDD:176281"
misc_feature 860..862
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01809"
misc_feature 938..1066
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/note="PAK (p21 activated kinase) Binding Domain (PBD),
binds Cdc42p- and/or Rho-like small GTPases; also known as
the Cdc42/Rac interactive binding (CRIB) motif; has been
shown to inhibit transcriptional activation and cell
transformation mediated by the...; Region: CRIB; cd00132"
/db_xref="CDD:29037"
misc_feature order(944..946,953..955,962..964,968..970,977..979,
1031..1033,1043..1045)
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/note="GTPase interaction site [polypeptide binding];
other site"
/db_xref="CDD:29037"
misc_feature 1061..1063
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by TNK2; propagated from
UniProtKB/Swiss-Prot (O00401.2); phosphorylation site"
misc_feature 1103..1105
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine, by FAK1 and TNK2; propagated from
UniProtKB/Swiss-Prot (O00401.2); phosphorylation site"
misc_feature 1103..1105
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01809"
misc_feature 1634..1687
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/note="Wiskott Aldrich syndrome homology region 2; Region:
WH2; smart00246"
/db_xref="CDD:128542"
misc_feature 1787..1789
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O00401.2); phosphorylation site"
misc_feature 1790..1792
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O00401.2); phosphorylation site"
exon 455..589
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
exon 590..676
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
exon 677..773
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
exon 774..797
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
exon 798..966
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
exon 967..1009
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
exon 1010..1163
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
exon 1164..1684
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
exon 1685..1793
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
exon 1794..4447
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
/inference="alignment:Splign:1.39.8"
polyA_signal 4405..4410
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
polyA_site 4436
/gene="WASL"
/gene_synonym="N-WASP; NWASP"
ORIGIN
tgccatgttggattgtgcggccgccgccgccgctgcgggagggttgggggaggagttgggagtttagcgcagtcgccggagtgcgaggacaacgaccatccggccctagcctggccgggcgggtgccgggagcttccctttctcagcgcggcgcgaaggtggctcgccgtcagcgcctgcttccctcgacctcgtcctcctccccgctccggaggagctgcgagatgtggcgcctctgactccacttctccccgcccctgtcaccgagagggggaacgagctctcgcccactcgccggaggagacggccctggactcccaaccccgccggcgaaaccatgagctccgtccagcagcagccgccgccgccgcggagggtcaccaacgtggggtccctgttgctcaccccgcaggagaacgagtccctcttcactttcctcggcaagaaatgtgtgactatgtcttcagcagtggtgcagttatatgcagcagatcggaactgtatgtggtcaaagaagtgcagtggtgttgcttgtcttgttaaggacaatccacagagatcttattttttaagaatatttgacattaaggatgggaaactattgtgggaacaagagctatacaataactttgtatataatagtcctagaggatattttcatacctttgctggagatacttgtcaagttgctcttaattttgccaatgaagaagaagcaaaaaaatttcgaaaagcagttacagaccttttgggccgtcgacaaaggaaatctgagaaaagacgagatcccccaaatggtcctaatctacccatggctacagttgatataaaaaatccagaaatcacaacaaatagattttatggtccacaagtcaacaacatctcccataccaaagaaaagaagaagggaaaagctaaaaagaagagattaaccaaggcagatataggaacaccaagcaatttccagcacattggacatgttggttgggatccaaatacaggctttgatctgaataatttggatccagaattgaagaatcttttcgatatgtgtggaatctcagaggcacaacttaaagacagagaaacatcaaaagttatatatgactttattgaaaaaacaggaggtgttgaagctgttaaaaatgaactgcggaggcaagcaccaccacctccaccaccatcaaggggagggccacctcctcctcctccccctccacacaactcaggtcctcctcctcctcctgctaggggaagaggcgctcctcccccaccaccttcaagagctcccacagctgcacctccaccaccgcctccttccaggccaagtgtagcagtccctccaccaccgccaaataggatgtaccctcctccacctccagcccttccctcctcagcaccttcagggcctccaccaccacctccatctgtgttgggggtagggccagtggcaccacccccaccgcctccacctccacctcctcctgggccaccgcccccgcctggcctgccttctgatggggaccatcaggttccaactactgcaggaaacaaagcagctcttttagatcaaattagagagggtgctcagctaaaaaaagtggagcagaacagtcggccagtgtcctgctctggacgagatgcactgttagaccagatacgacagggtatccaactaaaatctgtggctgatggccaagagtctacaccaccaacacctgcacccacttcaggaattgtgggtgcattaatggaagtgatgcagaaaaggagcaaagccattcattcttcagatgaagatgaagatgaagatgatgaagaagattttgaggatgatgatgagtgggaagactgatctatatattatatatatatatatatttttaaggtgaaatactaaacactactttctgtctgtggattctgtaaaattatcatgtaaatgttctaccaatttgctgtatatttttgttgccttttttgcttttttttaatctgtgcaatacctcatttaatctgtaaaggtttgtcgtaatcctctacaaagctactccctgttattgtgtgcaagtttacaccaggatgctcacttgatttgtgaatatttttcattccatcaacaagggagtttaaatactatatgtgagactgacaaaaaccttaatgtaatttacttataatgccagaaggaaaacactattttcataccctactttttctgtacctaaattttcttaaaaaaaaatctagtatagcactacattcttttttaagtgatgcagaccttagtttctttagcccctttattttgaatacaatgctacatatgaatgttgaagctgatacattgcacagttctgtagacatcactacaccgatgtagtttctcaaattttagcaatatgctctacataaaatcactacagagatactagtggggaagacgattaacacacctcttacagtaatactgcctgttattggtatagcagtggtatttgcagactgggatcataaggagcccttaaatacttgttattgactggggttatttttatgctgtagcaaatgtgacaggctctttttagcaaaatttttgaaaatttttttggtattactctgaaacaaaatttaagttggagtttcagggatttagggagtagttttcattctacatgaactgaggtaatattatggtaactccaatatttggttaaaaaaactatacaaatcagaatagtactaaaatactgtagaattttagcatttttattttgcactttgtgtggattgaggtgttcagaaataccaaccataaaaatgtaatctagttggcaaaggtgtgcgctaaaacacggaaccgaacatgcattgatttggataacttttgagggtttttgtcaaatagcatgtgaagagttacatttttcttaaaagattggtggtcccaatgtcagagttcttggaacagataactgaatgatagattttttttttttaaagataaaactttacaacctgcacatttgttatgcatactaaatggtgtgttaaaattagggtttctttgcctctctacactacactaatctgcctaaaggtggttgtttcatatttataatgctaattatcatacctacctactttaaattttaggtagaaaattatctgatttaaatacaaacatatttttctcacattgagtaatatgcataatgtagttccaaatgtatttcattactatagtcacaatatccaactaaaaattacgctatctagaattgtaccaaccaaaatctcgtattggcagatcttgacaggctggacctgcaagatgtggcttgaattttaaccatttattacataatctctagtgatcatgcatctagttatcataagaaataatttaaaaggttttgttgctgaaagcagtaagtggtgcagtaaaatacttaagttattcaaagaatgttatctttcttgcaagagtaatttaagcacatgggaaagattctagactttttgtttcttgcaacaacagtgccctctgctgctagaaacctttttctacttactatcatttttattgtggcttgagctcagtcaatctggtgcagatgaggctggacaactactaaccaataaaatcaggagtttgtacaaaagttaaatggaacattataattattttaagtaatgttaattgaaaaaattttttctttttgacaatataaaaaacattttaaatttcctagaaatgtcttcagggtaatgccaatttaagatctctcttaacttgtggccaagaaattctagattttccagctgactttggtataatatatatttatcaggaacttctctcagcagagagtacccattcttcgagttcaaagcacaattttaaacatgtaaaatggatatataatttgccaaaggtaattaatttattctttttttcttaaagaagaaaaagacattggttgttgttacaaaaagtctaaattactgttggttgaaacacagcagctgtggagttcagtccaggcatgaagactaaatctgctttaccaagtaaggtgtaaggttgcatgtttcagtcctctaccatcctgcactgtgagcagcactatacctgtgcgttgtctgaaagccttccgtatattctccagctaaatggtcgtctggtagcctttgcatttaacaaactagcatgaggctttttatatctaaatgctacgtgatagacaatttcagctagccacatattgtatgtatgagattcataaagactttcaatcatttcattttcagacaactgaaattttgtttagtatgtgaattctttttttgaaatgtatagtgaataggatgttgcactggtggcaattcatcatggagcataataaaattaatttgacccaaatagaataaaataatgtgtttc
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:8976 -> Molecular function: GO:0003779 [actin binding] evidence: IEA
GeneID:8976 -> Molecular function: GO:0005083 [small GTPase regulator activity] evidence: TAS
GeneID:8976 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:8976 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:8976 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
GeneID:8976 -> Biological process: GO:0006461 [protein complex assembly] evidence: TAS
GeneID:8976 -> Biological process: GO:0006900 [membrane budding] evidence: ISS
GeneID:8976 -> Biological process: GO:0006928 [cellular component movement] evidence: TAS
GeneID:8976 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
GeneID:8976 -> Biological process: GO:0008154 [actin polymerization or depolymerization] evidence: TAS
GeneID:8976 -> Biological process: GO:0009617 [response to bacterium] evidence: IEA
GeneID:8976 -> Biological process: GO:0016050 [vesicle organization] evidence: ISS
GeneID:8976 -> Biological process: GO:0030050 [vesicle transport along actin filament] evidence: ISS
GeneID:8976 -> Biological process: GO:0032880 [regulation of protein localization] evidence: IEA
GeneID:8976 -> Biological process: GO:0034629 [cellular protein complex localization] evidence: IEA
GeneID:8976 -> Biological process: GO:0038096 [Fc-gamma receptor signaling pathway involved in phagocytosis] evidence: TAS
GeneID:8976 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:8976 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
GeneID:8976 -> Biological process: GO:0046209 [nitric oxide metabolic process] evidence: TAS
GeneID:8976 -> Biological process: GO:0050999 [regulation of nitric-oxide synthase activity] evidence: TAS
GeneID:8976 -> Biological process: GO:0051491 [positive regulation of filopodium assembly] evidence: ISS
GeneID:8976 -> Biological process: GO:0051653 [spindle localization] evidence: IEA
GeneID:8976 -> Biological process: GO:2000370 [positive regulation of clathrin-mediated endocytosis] evidence: ISS
GeneID:8976 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
GeneID:8976 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:8976 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:8976 -> Cellular component: GO:0015629 [actin cytoskeleton] evidence: TAS
GeneID:8976 -> Cellular component: GO:0016023 [cytoplasmic membrane-bounded vesicle] evidence: ISS
GeneID:8976 -> Cellular component: GO:0030027 [lamellipodium] evidence: IEA
GeneID:8976 -> Cellular component: GO:0030478 [actin cap] evidence: IEA
GeneID:8976 -> Cellular component: GO:0030666 [endocytic vesicle membrane] evidence: TAS
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